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145 Cards in this Set
- Front
- Back
- 3rd side (hint)
primary adrenocortical deficiency; decreased cortisol, decreased aldosterone
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Addison’s Disease
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pernicious anemia
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Addisonian Anemia
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polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
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Albright’s Syndrome
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hereditary nephritis with nerve deafness
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Alport’s Syndrome
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progressive dementia
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Alzheimer’s
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loss of light reflex constriction (contralateral or bilateral)
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Argyll-Robertson Pupil
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cerebellar tonsil herniation
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Arnold-Chiari Malformation
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columnar metaplasia of lower esophagus ( risk of adenocarcinoma)
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Barrett’s
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hyperreninemia
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Bartter’s Syndrome
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similar to Duchenne, but less severe (deficiency in dystrophin protein)
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Becker’s Muscular Dystrophy
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CNVII palsy (entire face; recall that UMN lesion only affects lower face)
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Bell’s Palsy
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IgA nephropathy
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Berger’s Disease
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defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein: GP-Ib)
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Bernard-Soulier Disease
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circle of Willis (subarachnoid bleed)
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Berry Aneurysm
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carcinoma in situ on shaft of penis that is gray-white
(risk of visceral ca) |
Bowen’s Disease
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complete rupture of the esophagus
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Boerhaave's syndrome
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somatization disorder - multiple physical complaints w/o pathology
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Briquet’s Syndrome
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Motor Aphasia intact comprehension
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Broca’s Aphasia
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hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
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Brown-Sequard
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recurrent bacterial infections after 6 months of age, low levels of all classes of immunoglobulins;
X-linked recessive |
Bruton’s Disease
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post-hepatic venous thrombosis w/ centrilobar congestion & necrosis, leading to ascites & congestive liver disease
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Budd-Chiari
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acute inflammation of small, medium arteries -->
painful ischemia --> gangrene |
Buerger’s Disease
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small noncleaved cell lymphoma caused by EBV.
What translocation/oncogene? |
Burkitt’s Lymphoma
t(8;14) / c-myc |
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Nitric gas emboli
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Caisson Disease
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None
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Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
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Chagas’ Disease
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Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy w repeated infections
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Chediak-Higashi Disease
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primary hyperaldosteronism
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Conn’s Syndrome
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glycogen storage disease (debranching enzyme deficiency) that affects the heart
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Cori’s Disease
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None
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prion infection -> cerebellar & cerebral degeneration
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Creutzfeldt-Jakob
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congenital hyperbilirubinemia (unconjugated).
What is deficiency? |
Crigler-Najjar Syndrome
(glucuronyl transferase) |
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IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
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Crohn’s
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acute gastric ulcer associated with severe burns
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Curling’s Ulcer
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hypercorticism
2° to ACTH from pituitary (basophilic adenoma) |
Cushing’s
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acute gastric ulcer associated with CNS trauma
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Cushing’s Ulcer
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self-limiting focal destruction (subacute thyroiditis)
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de Quervain’s Thyroiditis
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thymic hypoplasia w/ T-cell deficiency; hypoparathyroidism
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DiGeorge’s Syndrome
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trisomy 21 or translocation
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Down’s Syndrome
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Post-MI Fibrinous Pericarditis autoimmune
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Dressler’s Syndrome
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congenital hyperbilirubinemia (conjugated) w/ brown/black discoloration of the liver due to defective liver excretion
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Dubin-Johnson Syndrome
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deficiency of dystrophin protein -> MD
Genetic class? |
Duchenne Muscular Dystrophy
(X-linked recessive) |
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rocker-bottom feet, low ears, heart disease.
What gene defect? |
Edwards’ Syndrome
(Trisomy 18) |
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defective collagen
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Ehler’s-Danlos
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late cyanotic shunt (R->L) pulmonary HTN & RVH secondary to long-standing VSD, ASD, or PDA
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Eisenmenger’s Complex
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trauma to superior trunk of brachial plexus (Waiter’s Tip)
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Erb-Duchenne Palsy
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undifferentiated round cell tumor of bone
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Ewing Sarcoma
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Circulating T3 decrease while rT3 increases . Type I: 5' deiodinase is inhibited by metabolic shock. Type II: 5' monodeiodinase still functions so the hypothalamic feeedback mechanism doesn't see the problem.
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Euthyroid sick syndrome
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carcinoma in situ on glans penis - red, soft lesion
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Eyrthroplasia of Queyrat
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impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
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Fanconi’s Syndrome
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rheumatoid arthritis, neutropenia, splenomegaly
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Felty’s Syndrome
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adenomatous polyps of colon plus osteomas & soft tissue tumors
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Gardner’s Syndrome
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Lysosomal storage disease: hepatosplenomegaly, femoral head & long bone erosion, anemia.
What enzyme is deficient? |
Gaucher’s Disease
(glucocerebrosidase) |
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benign congenital hyperbilirubinemia (unconjugated);
Asymptomatic mostly, yet onset w/ stress |
Gilbert’s Syndrome
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defective glycoproteins on platelets leading to a defect in agGregation:
low GP IIb-IIIa |
Glanzmann's Thrombasthenia
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autoimmune: ab’s to glomerular & alveolar basement membranes
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Goodpasture’s
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autoimmune hyperthyroidism (TSI)
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Grave’s Disease
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idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
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Guillain-Barre
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idiopathic pulmonary fibrosis
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Hamman-Rich Syndrome
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chronic progressive histiocytosis
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Hand-Schuller-Christian
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autoimmune hypothyroidism; #1 cause of hypothyroidism
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Hashimoto’s Thyroiditis
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childhood hypersensivity systemic vasculitis; skin rash, arthralgia, intestinal hemorrhage, upper respiratory infections
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Henoch-Schonlein purpura
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aganglionic megacolon
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Hirschprung’s Disease
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ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
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Horner’s Syndrome
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progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
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Huntington’s
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epileptic events originating in the primary motor cortex (area 4)
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Jacksonian Seizures
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immune deficiency: neutrophils fail to respond to chemotactic stimuli
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Job’s Syndrome
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malignant vascular tumor (HHV8 in homosexual men)
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Kaposi Sarcoma
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immotile cilia secondary to defective dynein arms infection, situs inversus, sterility
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Kartagener’s Syndrome
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childhood mucocutaneous lymph node syndrome (lips, oral mucosa), fever and congested conjunctiva
What can it lead to? |
Kawasaki Disease
(Acute necrotizing vasculitis) leads to: coronary aneurysms |
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47, XXY
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Klinefelter’s Syndrome
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bilateral lesions of amygdala (hypersexuality; oral behavior)
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Kluver-Bucy
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adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
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Krukenberg Tumor
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gout, retardation, self-mutilation.
What is the deficiency? |
Lesch-Nyhan
(HGPRT deficiency) |
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acute disseminated Langerhans’ cell histiocytosis
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Letterer-Siwe
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endocarditis with small vegetations on both sides of the valve leaflets (do not embolize) leading to mitral stenosis; associated w/ SLE
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Libman-Sacks
endocarditis |
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Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
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Lou Gehrig’s
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autosomal dominant familial colorectal CA
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Lynch syndrome
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bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
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Mallory-Weis Syndrome
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connective tissue defect
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Marfan’s
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glycogen storage disease (muscle phosphorylase deficiency)
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McArdle’s Disease
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rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
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Meckel’s Diverticulum
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Triad: ovarian fibroma, ascites, hydrothorax
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Meig’s Syndrome
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medullary CA of thyroid, primary hyperparathyroidism, pheochromacytoma
Inheritance? Gene? |
MEN IIa
(Sipple's syndrome) autosomal dominant ret gene |
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medullary CA of thyroid, mucosal neuroma of lips, pheochromacytoma
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MEN IIb
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giant hypertrophic gastritis
(thickened mucosa - rugae; plasma protein loss) |
Menetrier’s Disease
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chocolate brown blood cyanosis unresponsive to oxygen therapy.
What is given to patient? |
Methemoglobinemia
(methylene blue) |
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calcification of the media (usually radial & ulnar aa.)
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Monckeberg’s Arteriosclerosis
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factitious disorder (consciously creates symptoms, but doesn’t know why)
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Munchausen Syndrome
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1° Adrenal Cushings -->
surgical removal of adrenals --> loss of negative feedback to pituitary --> Pituitary Adenoma |
Nelson’s Syndrome
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Lysosomal Storage Disease: "foamy histiocytes"
What is the enzyme deficiency? |
Niemann-Pick
(sphingomyelinase deficiency) |
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Hereditary Hemorrhagic Telangiectasia
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Osler-Weber-Rendu Syndrome
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abnormal bone architecture (thickened, numerous fractures -> pain)
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Paget’s Disease
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bronchogenic tumor with superior sulcus involvement -> Horner’s Syndrome
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Pancoast Tumor
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dopamine depletion in nigrostriatal tracts
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Parkinson’s
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melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine
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Peutz-Jegher’s Syndrome
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subcutaneous fibrosis of dorsum of penis
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Peyronie’s Disease
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progressive dementia similar to Alzheimer’s
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Pick’s Disease
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hyperthyroidism, nodular goiter, absence of eye signs
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Plummer’s Syndrome
(Plummer’s = Grave’s - eye signs) |
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esophageal webs & iron-deficiency anemia, -> SCCA of esophagus
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Plummer-Vinson
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glycogen storage disease -> cardiomegaly
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Pompe’s Disease
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tuberculous osteomyelitis of the vertebrae
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Pott’s Disease
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renal agenesis -> oligohydramnios -> hypoplastic lungs, defects in extremities
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Potter’s Complex
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Disease: recurrent vasospasm in extremities
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Raynaud’s
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urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
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Reiter’s Syndrome
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microvesicular fatty liver change & encephalopathy secondary to aspirin ingestion in children following a virus
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Reye’s Syndrome
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idiopathic fibrous replacement of thyroid
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Riedel’s Thyroiditis
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congenital hyperbilirubinemia (conjugated) without discoloration of the liver
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Rotor Syndrome
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leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
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Sezary Syndrome
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aluminum inhalation -> lung fibrosis
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Shaver’s Disease
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postpartum pituitary necrosis
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Sheehan’s Syndrome
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parkinsonism with autonomic dysfunction & orthostatic hypotension
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Shy-Drager
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pituitary cachexia
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Simmond’s Disease
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pheochromocytoma, medullary CA of thyroid, mucosal neuromas
Gene? |
MEN III (or IIb)
ret gene / autosomal dominant |
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triad: dry eyes, dry mouth, arthritis (risk of B-cell lymphoma)
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Sjogren’s Syndrome
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Defect of spectrin resulting in spherical RBCs, resulting in hemolytic anemias
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Spherocytosis
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juvenile melanoma (always benign)
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Spitz Nevus
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polycystic ovary
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Stein-Leventhal
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erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection or sulfa drugs)
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Stevens-Johnson Syndrome
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juvenile rheumatoid arthritis (absence of rheumatoid factor)
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Still’s Disease
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aortic arch syndrome causing a extremely weak carotid, radial or ulnar pulses, myalgias, skin lesions, ocular disturbances;
Asian females |
Takayasu’s arteritis
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gangliosidosis (hexosaminidase A deficiency -> GM2 ganglioside)
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Tay-Sachs
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VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
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Tetralogy of Fallot
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involuntary actions, both motor and vocal
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Tourette’s Syndrome
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adenomatous polyps of colon + CNS tumors
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Turcot’s Syndrome
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45, XO
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Turner’s Syndrome
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“trench mouth” - acute necrotizing ulcerative gingivitis
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Vincent’s Infection
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glycogen storage disease (G6Pase deficiency)
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von Gierke’s Disease
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hemangioma (or hemangioblastoma) adenomas of the viscera, especially renal cell carcinoma
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von Hippel-Lindau
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neurofibromatosis & café au lait spots
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von Recklinghausen’s
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osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism
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von Recklinghausen’s Disease of Bone
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defect in platelet adhesion 2° to deficiency in vWF
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von Willebrand’s Disease
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proliferation of IgM,
"flame cells" (eosinophilic plasma cells), hyperviscosity |
Waldenstrom’s macroglobinemia
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Dx:
Ipsilateral: ataxia, facial pain & temp loss Contralateral: body pain & temp loss Where is brain? What vessel? |
Wallenberg’s Syndrome -
lateral medulla (PICA) |
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catastrophic adrenal insufficiency w/ hemorrhagic necrosis (eg, DIC).
secondary to meningiococcemia |
Waterhouse-Friderichsen
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Ipsilateral: mydriasis
Contralateral: UMN paralysis (lower face & body) |
Weber’s Syndrome
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necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
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Wegener’s Granulomatosis
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leptospirosis
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Weil’s Disease
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presents w/ kidney stones & stomach ulcers...
find: Pancreas, Pituitary, Parathyroid tumors Inheritance? |
MEN I (Wermer’s Syndrome)
Auto donminant |
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Sensory Aphasia impaired comprehension
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Wernicke’s Aphasia
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thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia, ophthalmoplegia)
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Wernicke-Korsakoff Syndrome
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malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
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Whipple’s Disease
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hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin)
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Wilson’s Disease
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combined B-cell & T-cell deficiency, low IgM, high IgA
recurrent Infection, thrombocytopenic Purpura & Eczema) What inheritance? |
Wiskott-Aldrich Syndrome
("WIPE") X-linked recessive |
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high iodine level (-)’s thyroid hormone synthesis
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Wolff-Chaikoff Effect
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esophageal; cricopharyngeal muscles above UES
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Zenker’s Diverticulum
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gastrin-secreting tumor of pancreas (or intestine) -> acid -> intractable ulcers
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Zollinger-Ellison
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